Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.S449F

RPTN

142 papers

Pfam Domains

S_100aa 4–48UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

repetin

HGNC Alias Symbol

FLJ39117

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001122965.1
p.S449F
c.1346C>T
Surrounding Variants
2 papers
NM_001122965.1
p.N448S
c.1343A>G
1 paper
NM_001122965.1
p.S436_N448del0
c.1307_1342del36
1 paper
NM_001122965.1
p.G452D
c.1355G>A
1 paper
NM_001122965.1
p.G446_Q447insTA
c.1336_1340ins6
1 paper
NM_001122965.1
p.R444K
c.1331G>A
2 papers
NM_001122965.1
p.P442T
c.1324C>A
3 papers
NM_001122965.1
p.Q459*
c.1375C>T
1 paper
NM_001122965.1
p.S460N
c.1379G>A
1 paper
NM_001122965.1
p.H438N
c.1312C>A
1 paper
NM_001122965.1
p.S461P
c.1381T>C
1 paper
NM_001122965.1
p.G464V
c.1391G>T
1 paper
NM_001122965.1
p.R432_Q433delFs
c.1295_1298del4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."